Details for: PKD1

Gene ID: 5310

Symbol: PKD1

Ensembl ID: ENSG00000008710

Description: polycystin 1, transient receptor potential channel interacting

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 215.6929
    Cell Significance Index: -33.5500
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 131.7204
    Cell Significance Index: -33.4100
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 66.6882
    Cell Significance Index: -31.4900
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 27.7220
    Cell Significance Index: -34.1800
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 11.2585
    Cell Significance Index: -30.1600
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 10.5748
    Cell Significance Index: -32.4800
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 9.8465
    Cell Significance Index: -21.5500
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 8.6872
    Cell Significance Index: -34.2800
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 2.4782
    Cell Significance Index: 497.1300
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 1.7969
    Cell Significance Index: 22.2900
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: 1.6785
    Cell Significance Index: 47.9000
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 1.6486
    Cell Significance Index: 591.3100
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 1.4621
    Cell Significance Index: 40.8600
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 1.2705
    Cell Significance Index: 85.4300
  • Cell Name: pyramidal neuron (CL0000598)
    Fold Change: 1.1499
    Cell Significance Index: 8.8200
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 0.9615
    Cell Significance Index: 36.4100
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.9400
    Cell Significance Index: 41.5800
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.8648
    Cell Significance Index: 171.6200
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.7452
    Cell Significance Index: 672.8200
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: 0.5823
    Cell Significance Index: 13.9700
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.5756
    Cell Significance Index: 35.3800
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.5644
    Cell Significance Index: 7.7000
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.5542
    Cell Significance Index: 25.1200
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.5470
    Cell Significance Index: 104.0900
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.4996
    Cell Significance Index: 81.2500
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.4881
    Cell Significance Index: 37.4600
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.4315
    Cell Significance Index: 59.2600
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.4137
    Cell Significance Index: 45.0000
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.4033
    Cell Significance Index: 21.1800
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.3974
    Cell Significance Index: 11.4500
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.3618
    Cell Significance Index: 6.2000
  • Cell Name: cone retinal bipolar cell (CL0000752)
    Fold Change: 0.3166
    Cell Significance Index: 2.4400
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.3157
    Cell Significance Index: 6.8400
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.2397
    Cell Significance Index: 30.7300
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.2343
    Cell Significance Index: 103.6000
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.2236
    Cell Significance Index: 40.3000
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.1962
    Cell Significance Index: 302.1000
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.1686
    Cell Significance Index: 229.2900
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.1590
    Cell Significance Index: 15.7300
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.1556
    Cell Significance Index: 10.7600
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.1378
    Cell Significance Index: 75.2700
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.1320
    Cell Significance Index: 16.2300
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.1043
    Cell Significance Index: 192.3600
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0931
    Cell Significance Index: 175.3700
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.0794
    Cell Significance Index: 3.7000
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.0785
    Cell Significance Index: 35.6400
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 0.0681
    Cell Significance Index: 1.7500
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.0601
    Cell Significance Index: 3.3700
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 0.0466
    Cell Significance Index: 1.3400
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0444
    Cell Significance Index: 28.2000
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.0359
    Cell Significance Index: 0.5200
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.0064
    Cell Significance Index: 0.1400
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0019
    Cell Significance Index: -0.2800
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.0038
    Cell Significance Index: -0.1400
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0141
    Cell Significance Index: -10.3700
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0299
    Cell Significance Index: -22.1400
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.0331
    Cell Significance Index: -2.1300
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.0332
    Cell Significance Index: -0.8300
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: -0.0369
    Cell Significance Index: -0.9000
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0379
    Cell Significance Index: -28.6800
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0400
    Cell Significance Index: -1.8800
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.0477
    Cell Significance Index: -0.9300
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0518
    Cell Significance Index: -29.2300
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0560
    Cell Significance Index: -35.0000
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0793
    Cell Significance Index: -13.5400
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0867
    Cell Significance Index: -8.8600
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0991
    Cell Significance Index: -28.5000
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.1013
    Cell Significance Index: -11.8100
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.1444
    Cell Significance Index: -17.0300
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.1460
    Cell Significance Index: -18.8600
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.1543
    Cell Significance Index: -4.2000
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1570
    Cell Significance Index: -33.0800
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.1613
    Cell Significance Index: -11.4100
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.1661
    Cell Significance Index: -2.7800
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1778
    Cell Significance Index: -18.5100
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.1981
    Cell Significance Index: -10.2900
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.2166
    Cell Significance Index: -24.8100
  • Cell Name: hippocampal astrocyte (CL0002604)
    Fold Change: -0.2181
    Cell Significance Index: -3.0500
  • Cell Name: OFF midget ganglion cell (CL4033047)
    Fold Change: -0.2197
    Cell Significance Index: -2.7400
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.2328
    Cell Significance Index: -14.6700
  • Cell Name: hippocampal interneuron (CL1001569)
    Fold Change: -0.2329
    Cell Significance Index: -3.0200
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.2338
    Cell Significance Index: -4.8500
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.2381
    Cell Significance Index: -5.0700
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.2576
    Cell Significance Index: -19.2000
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.2851
    Cell Significance Index: -9.1300
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.3240
    Cell Significance Index: -10.3200
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: -0.3277
    Cell Significance Index: -2.7100
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.3398
    Cell Significance Index: -26.9100
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.3496
    Cell Significance Index: -9.1900
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.3527
    Cell Significance Index: -7.0800
  • Cell Name: ON midget ganglion cell (CL4033046)
    Fold Change: -0.3684
    Cell Significance Index: -4.6500
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.3802
    Cell Significance Index: -8.0700
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.3979
    Cell Significance Index: -10.6300
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.4065
    Cell Significance Index: -13.3100
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.4290
    Cell Significance Index: -26.3000
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.4294
    Cell Significance Index: -8.4900
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.4325
    Cell Significance Index: -22.5300
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.4668
    Cell Significance Index: -10.0900
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.4816
    Cell Significance Index: -7.1100
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.5268
    Cell Significance Index: -14.1200

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** 1. **Calcium Channel Function:** PKD1 is a calcium channel protein that regulates the influx of calcium ions into cells, which is essential for various cellular processes, including muscle contraction, neurotransmitter release, and cell signaling. 2. **Transient Receptor Potential Channel Interaction:** PKD1 interacts with transient receptor potential channels, modulating their activity and influencing cellular responses to mechanical stimuli. 3. **Cellular Localization:** PKD1 is primarily localized to the plasma membrane, where it plays a critical role in cell-cell adhesion, cell signaling, and transport. 4. **Expression Pattern:** PKD1 is highly expressed in various tissues, including the kidneys, brain, and lens, where it is involved in the development and maintenance of these organs. **Pathways and Functions:** 1. **Cell Signaling:** PKD1 modulates cell signaling pathways, including the Wnt signaling pathway, which is involved in the regulation of cell proliferation, differentiation, and survival. 2. **Cell Adhesion:** PKD1 regulates cell adhesion through its interaction with other proteins, such as cadherins and integrins, which are essential for maintaining tissue structure and function. 3. **Transport:** PKD1 is involved in the transport of ions and molecules across the plasma membrane, which is critical for maintaining cellular homeostasis and regulating cellular processes. 4. **Developmental Processes:** PKD1 is essential for the development and maintenance of various organs, including the kidneys, brain, and lens, where it plays a critical role in regulating cell growth, differentiation, and survival. **Clinical Significance:** 1. **Autosomal Dominant Polycystic Kidney Disease (ADPKD):** Mutations in the PKD1 gene are the most common cause of ADPKD, a common inherited disorder characterized by the growth of multiple cysts in the kidneys, leading to kidney failure and other complications. 2. **Kidney Disease:** PKD1 mutations can lead to the development of kidney disease, including renal failure, hypertension, and electrolyte imbalances. 3. **Cognitive Impairment:** PKD1 mutations have been associated with cognitive impairment, including dementia and Alzheimer's disease-like symptoms. 4. **Lens Abnormalities:** PKD1 mutations can also lead to abnormalities in the lens, including cataracts and glaucoma. In conclusion, the PKD1 gene plays a critical role in various cellular processes, including cell signaling, adhesion, and transport. Mutations in the PKD1 gene can lead to the development of autosomal dominant polycystic kidney disease, kidney disease, cognitive impairment, and lens abnormalities. Further research is needed to understand the mechanisms underlying PKD1-mediated disorders and to develop effective therapeutic strategies for the treatment of these conditions.

Genular Protein ID: 738832201

Symbol: PKD1_HUMAN

Name: Autosomal dominant polycystic kidney disease 1 protein

UniProtKB Accession Codes:

P98161 Q15140 Q15141

Database IDs:

AGR 1 Antibodypedia 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CDD 3 CORUM 1 CTD 1 ChEMBL 1 ChiTaRS 1 ComplexPortal 1 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 12 EMDB 2 Ensembl 2 EvolutionaryTrace 1 ExpressionAtlas 1 GO 71 Gene3D 4 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 23 KEGG 1 MANE-Select 1 MEROPS 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 NCBIfam 1 OMA 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 PDB 2 PDBsum 2 PIR 1 PRINTS 1 PRO 1 PROSITE 7 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 8 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 3 RNAct 1 Reactome 1 RefSeq 2 SIGNOR 1 SMART 8 SMR 1 STRING 1 SUPFAM 4 SignaLink 1 TCDB 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 7736581

Title: Polycystic kidney disease: the complete structure of the PKD1 gene and its protein.

PubMed ID: 7736581

DOI: 10.1016/0092-8674(95)90339-9

PubMed ID: 7663510

Title: The polycystic kidney disease 1 (PKD1) gene encodes a novel protein with multiple cell recognition domains.

PubMed ID: 7663510

DOI: 10.1038/ng0695-151

PubMed ID: 15616553

Title: The sequence and analysis of duplication-rich human chromosome 16.

PubMed ID: 15616553

DOI: 10.1038/nature03187

PubMed ID: 8004675

Title: The polycystic kidney disease 1 gene encodes a 14 kb transcript and lies within a duplicated region on chromosome 16.

PubMed ID: 8004675

DOI: 10.1016/0092-8674(94)90137-6

PubMed ID: 8069919

Title:

PubMed ID: 8069919

PubMed ID: 10339594

Title: Interaction between RGS7 and polycystin.

PubMed ID: 10339594

DOI: 10.1073/pnas.96.11.6371

PubMed ID: 12482949

Title: Cleavage of polycystin-1 requires the receptor for egg jelly domain and is disrupted by human autosomal-dominant polycystic kidney disease 1-associated mutations.

PubMed ID: 12482949

DOI: 10.1073/pnas.252484899

PubMed ID: 17525154

Title: Characterization of cis-autoproteolysis of polycystin-1, the product of human polycystic kidney disease 1 gene.

PubMed ID: 17525154

DOI: 10.1074/jbc.m703218200

PubMed ID: 17980165

Title: Protein kinase X (PRKX) can rescue the effects of polycystic kidney disease-1 gene (PKD1) deficiency.

PubMed ID: 17980165

DOI: 10.1016/j.bbadis.2007.09.003

PubMed ID: 20881056

Title: Protein kinase D-mediated phosphorylation of polycystin-2 (TRPP2) is essential for its effects on cell growth and calcium channel activity.

PubMed ID: 20881056

DOI: 10.1091/mbc.e10-04-0377

PubMed ID: 20980620

Title: Polycystin-1 surface localization is stimulated by polycystin-2 and cleavage at the G protein-coupled receptor proteolytic site.

PubMed ID: 20980620

DOI: 10.1091/mbc.e10-05-0407

PubMed ID: 20856870

Title: Nephrocystin-1 forms a complex with polycystin-1 via a polyproline motif/SH3 domain interaction and regulates the apoptotic response in mammals.

PubMed ID: 20856870

DOI: 10.1371/journal.pone.0012719

PubMed ID: 24939912

Title: Bardet-Biedl syndrome proteins 1 and 3 regulate the ciliary trafficking of polycystic kidney disease 1 protein.

PubMed ID: 24939912

DOI: 10.1093/hmg/ddu267

PubMed ID: 27259053

Title: Mutations in GANAB, encoding the glucosidase IIalpha subunit, cause autosomal-dominant polycystic kidney and liver disease.

PubMed ID: 27259053

DOI: 10.1016/j.ajhg.2016.05.004

PubMed ID: 27214281

Title: The polycystin complex mediates Wnt/Ca(2+) signalling.

PubMed ID: 27214281

DOI: 10.1038/ncb3363

PubMed ID: 37681898

Title: Polycystin-1 Interacting Protein-1 (CU062) Interacts with the Ectodomain of Polycystin-1 (PC1).

PubMed ID: 37681898

DOI: 10.3390/cells12172166

PubMed ID: 9889186

Title: The structure of a PKD domain from polycystin-1: implications for polycystic kidney disease.

PubMed ID: 9889186

DOI: 10.1093/emboj/18.2.297

PubMed ID: 30093605

Title: Structure of the human PKD1-PKD2 complex.

PubMed ID: 30093605

DOI: 10.1126/science.aat9819

PubMed ID: 11698076

Title: Polycystin channels and kidney disease.

PubMed ID: 11698076

DOI: 10.1016/s0165-6147(00)01832-0

PubMed ID: 8554072

Title: Screening the 3' region of the polycystic kidney disease 1 (PKD1) gene reveals six novel mutations.

PubMed ID: 8554072

PubMed ID: 9199561

Title: Identification of mutations in the duplicated region of the polycystic kidney disease 1 gene (PKD1) by a novel approach.

PubMed ID: 9199561

DOI: 10.1086/515467

PubMed ID: 9150733

Title: New amino acid polymorphism, Ala/Val4058, in exon 45 of the polycystic kidney disease 1 gene: evolution of alleles.

PubMed ID: 9150733

DOI: 10.1007/s004390050421

PubMed ID: 9285784

Title: An unusual pattern of mutation in the duplicated portion of PKD1 is revealed by use of a novel strategy for mutation detection.

PubMed ID: 9285784

DOI: 10.1093/hmg/6.9.1473

PubMed ID: 9259200

Title: Three novel mutations of the PKD1 gene in Italian families with autosomal dominant polycystic kidney disease.

PubMed ID: 9259200

DOI: 10.1002/(sici)1098-1004(1997)10:2<164::aid-humu9>3.0.co;2-k

PubMed ID: 9521593

Title: Novel and recurrent mutations in the PKD1 (polycystic kidney disease) gene.

PubMed ID: 9521593

DOI: 10.1007/s004390050681

PubMed ID: 9921908

Title: Loss of heterozygosity in polycystic kidney disease with a missense mutation in the repeated region of PKD1.

PubMed ID: 9921908

DOI: 10.1007/s004390050896

PubMed ID: 10364515

Title: Identification of mutations in the repeated part of the autosomal dominant polycystic kidney disease type 1 gene, PKD1, by long-range PCR.

PubMed ID: 10364515

DOI: 10.1086/302460

PubMed ID: 10577909

Title: Mutation detection of PKD1 identifies a novel mutation common to three families with aneurysms and/or very-early-onset disease.

PubMed ID: 10577909

DOI: 10.1086/302657

PubMed ID: 10987650

Title: DGGE screening of PKD1 gene reveals novel mutations in a large cohort of 146 unrelated patients.

PubMed ID: 10987650

DOI: 10.1007/s004390051094

PubMed ID: 10647901

Title: Novel mutations in the 3 region of the polycystic kidney disease 1 (PKD1) gene.

PubMed ID: 10647901

DOI: 10.1007/s004399900177

PubMed ID: 10200984

Title: Mutational analysis within the 3' region of the PKD1 gene.

PubMed ID: 10200984

DOI: 10.1046/j.1523-1755.1999.00368.x

PubMed ID: 10854095

Title: Novel mutations in the duplicated region of PKD1 gene.

PubMed ID: 10854095

DOI: 10.1038/sj.ejhg.5200459

PubMed ID: 11216660

Title: Novel mutations in the duplicated region of the polycystic kidney disease 1 (PKD1) gene provides supporting evidence for gene conversion.

PubMed ID: 11216660

DOI: 10.1089/109065700750065108

PubMed ID: 10923040

Title: Screening of the PKD1 duplicated region reveals multiple single nucleotide polymorphisms and a de novo mutation in Hellenic polycystic kidney disease families.

PubMed ID: 10923040

DOI: 10.1002/1098-1004(200008)16:2<176::aid-humu11>3.0.co;2-h

PubMed ID: 11058904

Title: Novel splicing and missense mutations in autosomal dominant polycystic kidney disease 1 (PKD1) gene: expression of mutated genes.

PubMed ID: 11058904

DOI: 10.1002/1098-1004(200011)16:5<444::aid-humu11>3.0.co;2-c

PubMed ID: 11012875

Title: Thirteen novel mutations of the replicated region of PKD1 in an Asian population.

PubMed ID: 11012875

DOI: 10.1046/j.1523-1755.2000.00302.x

PubMed ID: 10729710

Title: Novel mutations of the PKD1 gene in Korean patients with autosomal dominant polycystic kidney disease.

PubMed ID: 10729710

DOI: 10.1016/s1383-5726(99)00013-8

PubMed ID: 11115377

Title: Mutation analysis of the entire PKD1 gene: genetic and diagnostic implications.

PubMed ID: 11115377

DOI: 10.1086/316939

PubMed ID: 11571556

Title: Novel PKD1 deletions and missense variants in a cohort of Hellenic polycystic kidney disease families.

PubMed ID: 11571556

DOI: 10.1038/sj.ejhg.5200696

PubMed ID: 11316854

Title: Mutation analysis of the entire replicated portion of PKD1 using genomic DNA samples.

PubMed ID: 11316854

DOI: 10.1681/asn.v125955

PubMed ID: 11558899

Title: Mutations of the PKD1 gene among Japanese autosomal dominant polycystic kidney disease patients, including one heterozygous mutation identified in members of the same family.

PubMed ID: 11558899

DOI: 10.1007/s100380170032

PubMed ID: 11691639

Title: Mutational analysis within the 3' region of the PKD1 gene in Japanese families.

PubMed ID: 11691639

DOI: 10.1016/s0027-5107(01)00226-3

PubMed ID: 12220456

Title: Three novel mutations of the PKD1 gene in Korean patients with autosomal dominant polycystic kidney disease.

PubMed ID: 12220456

DOI: 10.1034/j.1399-0004.2002.620211.x

PubMed ID: 11857740

Title: Mutation detection in the duplicated region of the polycystic kidney disease 1 (PKD1) gene in PKD1-linked Australian families.

PubMed ID: 11857740

DOI: 10.1002/humu.10045

PubMed ID: 12007219

Title: Mutation analysis in PKD1 of Japanese autosomal dominant polycystic kidney disease patients.

PubMed ID: 12007219

DOI: 10.1002/humu.10080

PubMed ID: 12070253

Title: Mutation screening of the PKD1 transcript by RT-PCR.

PubMed ID: 12070253

DOI: 10.1136/jmg.39.6.422

PubMed ID: 11967008

Title: A complete mutation screen of the ADPKD genes by DHPLC.

PubMed ID: 11967008

DOI: 10.1046/j.1523-1755.2002.00326.x

PubMed ID: 11773467

Title: Novel mutations of PKD1 gene in Chinese patients with autosomal dominant polycystic kidney disease.

PubMed ID: 11773467

DOI: 10.1093/ndt/17.1.75

PubMed ID: 12842373

Title: Association of mutation position in polycystic kidney disease 1 (PKD1) gene and development of a vascular phenotype.

PubMed ID: 12842373

DOI: 10.1016/s0140-6736(03)13773-7

PubMed ID: 15772804

Title: Genetics and phenotypic characteristics of autosomal dominant polycystic kidney disease in Finns.

PubMed ID: 15772804

DOI: 10.1007/s00109-005-0644-6

PubMed ID: 18837007

Title: Novel method for genomic analysis of PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease.

PubMed ID: 18837007

DOI: 10.1002/humu.20842

PubMed ID: 21115670

Title: Novel PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease (ADPKD).

PubMed ID: 21115670

DOI: 10.1093/ndt/gfq720

PubMed ID: 22508176

Title: Autosomal dominant polycystic kidney disease: Comprehensive mutation analysis of PKD1 and PKD2 in 700 unrelated patients.

PubMed ID: 22508176

DOI: 10.1002/humu.22103

Sequence Information:

  • Length: 4303
  • Mass: 462529
  • Checksum: AEDAC48F3F0A853C
  • Sequence:
    • MPPAAPARLA LALGLGLWLG ALAGGPGRGC GPCEPPCLCG PAPGAACRVN CSGRGLRTLG 
PALRIPADAT ALDVSHNLLR ALDVGLLANL SALAELDISN NKISTLEEGI FANLFNLSEI 
NLSGNPFECD CGLAWLPRWA EEQQVRVVQP EAATCAGPGS LAGQPLLGIP LLDSGCGEEY 
VACLPDNSSG TVAAVSFSAA HEGLLQPEAC SAFCFSTGQG LAALSEQGWC LCGAAQPSSA 
SFACLSLCSG PPPPPAPTCR GPTLLQHVFP ASPGATLVGP HGPLASGQLA AFHIAAPLPV 
TATRWDFGDG SAEVDAAGPA ASHRYVLPGR YHVTAVLALG AGSALLGTDV QVEAAPAALE 
LVCPSSVQSD ESLDLSIQNR GGSGLEAAYS IVALGEEPAR AVHPLCPSDT EIFPGNGHCY 
RLVVEKAAWL QAQEQCQAWA GAALAMVDSP AVQRFLVSRV TRSLDVWIGF STVQGVEVGP 
APQGEAFSLE SCQNWLPGEP HPATAEHCVR LGPTGWCNTD LCSAPHSYVC ELQPGGPVQD 
AENLLVGAPS GDLQGPLTPL AQQDGLSAPH EPVEVMVFPG LRLSREAFLT TAEFGTQELR 
RPAQLRLQVY RLLSTAGTPE NGSEPESRSP DNRTQLAPAC MPGGRWCPGA NICLPLDASC 
HPQACANGCT SGPGLPGAPY ALWREFLFSV PAGPPAQYSV TLHGQDVLML PGDLVGLQHD 
AGPGALLHCS PAPGHPGPRA PYLSANASSW LPHLPAQLEG TWACPACALR LLAATEQLTV 
LLGLRPNPGL RLPGRYEVRA EVGNGVSRHN LSCSFDVVSP VAGLRVIYPA PRDGRLYVPT 
NGSALVLQVD SGANATATAR WPGGSVSARF ENVCPALVAT FVPGCPWETN DTLFSVVALP 
WLSEGEHVVD VVVENSASRA NLSLRVTAEE PICGLRATPS PEARVLQGVL VRYSPVVEAG 
SDMVFRWTIN DKQSLTFQNV VFNVIYQSAA VFKLSLTASN HVSNVTVNYN VTVERMNRMQ 
GLQVSTVPAV LSPNATLALT AGVLVDSAVE VAFLWTFGDG EQALHQFQPP YNESFPVPDP 
SVAQVLVEHN VMHTYAAPGE YLLTVLASNA FENLTQQVPV SVRASLPSVA VGVSDGVLVA 
GRPVTFYPHP LPSPGGVLYT WDFGDGSPVL TQSQPAANHT YASRGTYHVR LEVNNTVSGA 
AAQADVRVFE ELRGLSVDMS LAVEQGAPVV VSAAVQTGDN ITWTFDMGDG TVLSGPEATV 
EHVYLRAQNC TVTVGAASPA GHLARSLHVL VFVLEVLRVE PAACIPTQPD ARLTAYVTGN 
PAHYLFDWTF GDGSSNTTVR GCPTVTHNFT RSGTFPLALV LSSRVNRAHY FTSICVEPEV 
GNVTLQPERQ FVQLGDEAWL VACAWPPFPY RYTWDFGTEE AAPTRARGPE VTFIYRDPGS 
YLVTVTASNN ISAANDSALV EVQEPVLVTS IKVNGSLGLE LQQPYLFSAV GRGRPASYLW 
DLGDGGWLEG PEVTHAYNST GDFTVRVAGW NEVSRSEAWL NVTVKRRVRG LVVNASRTVV 
PLNGSVSFST SLEAGSDVRY SWVLCDRCTP IPGGPTISYT FRSVGTFNII VTAENEVGSA 
QDSIFVYVLQ LIEGLQVVGG GRYFPTNHTV QLQAVVRDGT NVSYSWTAWR DRGPALAGSG 
KGFSLTVLEA GTYHVQLRAT NMLGSAWADC TMDFVEPVGW LMVAASPNPA AVNTSVTLSA 
ELAGGSGVVY TWSLEEGLSW ETSEPFTTHS FPTPGLHLVT MTAGNPLGSA NATVEVDVQV 
PVSGLSIRAS EPGGSFVAAG SSVPFWGQLA TGTNVSWCWA VPGGSSKRGP HVTMVFPDAG 
TFSIRLNASN AVSWVSATYN LTAEEPIVGL VLWASSKVVA PGQLVHFQIL LAAGSAVTFR 
LQVGGANPEV LPGPRFSHSF PRVGDHVVSV RGKNHVSWAQ AQVRIVVLEA VSGLQVPNCC 
EPGIATGTER NFTARVQRGS RVAYAWYFSL QKVQGDSLVI LSGRDVTYTP VAAGLLEIQV 
RAFNALGSEN RTLVLEVQDA VQYVALQSGP CFTNRSAQFE AATSPSPRRV AYHWDFGDGS 
PGQDTDEPRA EHSYLRPGDY RVQVNASNLV SFFVAQATVT VQVLACREPE VDVVLPLQVL 
MRRSQRNYLE AHVDLRDCVT YQTEYRWEVY RTASCQRPGR PARVALPGVD VSRPRLVLPR 
LALPVGHYCF VFVVSFGDTP LTQSIQANVT VAPERLVPII EGGSYRVWSD TRDLVLDGSE 
SYDPNLEDGD QTPLSFHWAC VASTQREAGG CALNFGPRGS STVTIPRERL AAGVEYTFSL 
TVWKAGRKEE ATNQTVLIRS GRVPIVSLEC VSCKAQAVYE VSRSSYVYLE GRCLNCSSGS 
KRGRWAARTF SNKTLVLDET TTSTGSAGMR LVLRRGVLRD GEGYTFTLTV LGRSGEEEGC 
ASIRLSPNRP PLGGSCRLFP LGAVHALTTK VHFECTGWHD AEDAGAPLVY ALLLRRCRQG 
HCEEFCVYKG SLSSYGAVLP PGFRPHFEVG LAVVVQDQLG AAVVALNRSL AITLPEPNGS 
ATGLTVWLHG LTASVLPGLL RQADPQHVIE YSLALVTVLN EYERALDVAA EPKHERQHRA 
QIRKNITETL VSLRVHTVDD IQQIAAALAQ CMGPSRELVC RSCLKQTLHK LEAMMLILQA 
ETTAGTVTPT AIGDSILNIT GDLIHLASSD VRAPQPSELG AESPSRMVAS QAYNLTSALM 
RILMRSRVLN EEPLTLAGEE IVAQGKRSDP RSLLCYGGAP GPGCHFSIPE AFSGALANLS 
DVVQLIFLVD SNPFPFGYIS NYTVSTKVAS MAFQTQAGAQ IPIERLASER AITVKVPNNS 
DWAARGHRSS ANSANSVVVQ PQASVGAVVT LDSSNPAAGL HLQLNYTLLD GHYLSEEPEP 
YLAVYLHSEP RPNEHNCSAS RRIRPESLQG ADHRPYTFFI SPGSRDPAGS YHLNLSSHFR 
WSALQVSVGL YTSLCQYFSE EDMVWRTEGL LPLEETSPRQ AVCLTRHLTA FGASLFVPPS 
HVRFVFPEPT ADVNYIVMLT CAVCLVTYMV MAAILHKLDQ LDASRGRAIP FCGQRGRFKY 
EILVKTGWGR GSGTTAHVGI MLYGVDSRSG HRHLDGDRAF HRNSLDIFRI ATPHSLGSVW 
KIRVWHDNKG LSPAWFLQHV IVRDLQTARS AFFLVNDWLS VETEANGGLV EKEVLAASDA 
ALLRFRRLLV AELQRGFFDK HIWLSIWDRP PRSRFTRIQR ATCCVLLICL FLGANAVWYG 
AVGDSAYSTG HVSRLSPLSV DTVAVGLVSS VVVYPVYLAI LFLFRMSRSK VAGSPSPTPA 
GQQVLDIDSC LDSSVLDSSF LTFSGLHAEQ AFVGQMKSDL FLDDSKSLVC WPSGEGTLSW 
PDLLSDPSIV GSNLRQLARG QAGHGLGPEE DGFSLASPYS PAKSFSASDE DLIQQVLAEG 
VSSPAPTQDT HMETDLLSSL SSTPGEKTET LALQRLGELG PPSPGLNWEQ PQAARLSRTG 
LVEGLRKRLL PAWCASLAHG LSLLLVAVAV AVSGWVGASF PPGVSVAWLL SSSASFLASF 
LGWEPLKVLL EALYFSLVAK RLHPDEDDTL VESPAVTPVS ARVPRVRPPH GFALFLAKEE 
ARKVKRLHGM LRSLLVYMLF LLVTLLASYG DASCHGHAYR LQSAIKQELH SRAFLAITRS 
EELWPWMAHV LLPYVHGNQS SPELGPPRLR QVRLQEALYP DPPGPRVHTC SAAGGFSTSD 
YDVGWESPHN GSGTWAYSAP DLLGAWSWGS CAVYDSGGYV QELGLSLEES RDRLRFLQLH 
NWLDNRSRAV FLELTRYSPA VGLHAAVTLR LEFPAAGRAL AALSVRPFAL RRLSAGLSLP 
LLTSVCLLLF AVHFAVAEAR TWHREGRWRV LRLGAWARWL LVALTAATAL VRLAQLGAAD 
RQWTRFVRGR PRRFTSFDQV AQLSSAARGL AASLLFLLLV KAAQQLRFVR QWSVFGKTLC 
RALPELLGVT LGLVVLGVAY AQLAILLVSS CVDSLWSVAQ ALLVLCPGTG LSTLCPAESW 
HLSPLLCVGL WALRLWGALR LGAVILRWRY HALRGELYRP AWEPQDYEMV ELFLRRLRLW 
MGLSKVKEFR HKVRFEGMEP LPSRSSRGSK VSPDVPPPSA GSDASHPSTS SSQLDGLSVS 
LGRLGTRCEP EPSRLQAVFE ALLTQFDRLN QATEDVYQLE QQLHSLQGRR SSRAPAGSSR 
GPSPGLRPAL PSRLARASRG VDLATGPSRT PLRAKNKVHP SST

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.